Variant report

Variant	nsv5359
Chromosome Location	chr6:77428304-77469152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:77464445..77465326-chr7:1518971..1519642,2	MCF-7	breast:
2	chr6:77420178..77422936-chr6:77426529..77430097,4	MCF-7	breast:

Extended variants
information (count: 1866 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1866 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570538393	chr6:77428313-77428314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537971869	chr6:77428399-77428400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538204145	chr6:77428417-77428418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556540083	chr6:77428489-77428490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5877508	chr6:77428511-77428512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3031774	chr6:77428517-77428518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556112246	chr6:77428525-77428526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79855874	chr6:77428528-77428529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372732792	chr6:77428590-77428591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141583652	chr6:77428636-77428637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554971702	chr6:77428637-77428638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542575359	chr6:77428694-77428695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573066524	chr6:77428722-77428723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540448151	chr6:77428743-77428744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558754467	chr6:77428813-77428814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576911429	chr6:77428825-77428826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544420471	chr6:77428870-77428871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191567711	chr6:77428930-77428931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146195555	chr6:77428935-77428936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542068456	chr6:77428945-77428946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12200640	chr6:77428953-77428954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139022337	chr6:77428954-77428955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116947681	chr6:77429045-77429046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570698446	chr6:77429093-77429094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566277998	chr6:77429103-77429104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149965508	chr6:77429124-77429125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145118312	chr6:77429126-77429127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184142042	chr6:77429164-77429165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535120210	chr6:77429190-77429191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555215791	chr6:77429247-77429248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113924605	chr6:77429249-77429250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533476557	chr6:77429257-77429258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79791860	chr6:77429303-77429304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369237349	chr6:77429317-77429318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12665372	chr6:77429352-77429353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577070746	chr6:77429385-77429386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148681777	chr6:77429459-77429460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556393163	chr6:77429506-77429507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563555587	chr6:77429539-77429540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145145222	chr6:77429548-77429549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188862620	chr6:77429553-77429554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541883143	chr6:77429589-77429590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531219409	chr6:77429629-77429630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560502216	chr6:77429752-77429753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77029592	chr6:77429812-77429813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546163890	chr6:77429864-77429865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76513133	chr6:77429871-77429872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531413950	chr6:77429898-77429899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375619580	chr6:77429899-77429900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12660672	chr6:77429928-77429929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77425600-77433000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:77434400-77434600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:77436200-77437000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:77439200-77441000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:77443200-77443600	Active TSS	Aorta	Aorta
7	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:77452800-77454400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr6:77454400-77456400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:77462400-77463000	Weak transcription	Aorta	Aorta
11	chr6:77463000-77463600	ZNF genes & repeats	Aorta	Aorta
12	chr6:77463400-77463800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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